Canonical Allele Identifier: PA2827764027
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1305332
ClinVar RCV Id: RCV001768539 RCV003753191
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Ser551Phe
CA349068255
NM_001353950.2:c.1652C>T